congenital myasthenic syndrome 4C

Term ID

DOID:0110679

Synonyms

CMS Id
CMS1D
CMS4C
congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
congenital myasthenic syndrome type Id
FIM1

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (2)

References

MIM:608931

Ontology

Human Disease ( DOID:0110679 )

Relationships

is a type of: autosomal recessive disease congenital myasthenic syndrome

autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models